rs377177061
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs377177061(C;T) |
Make rs377177061(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 4 |
Position | 15502879 |
Gene | CC2D2A |
is a | snp |
is | mentioned by |
dbSNP | rs377177061 |
dbSNP (classic) | rs377177061 |
ClinGen | rs377177061 |
ebi | rs377177061 |
HLI | rs377177061 |
Exac | rs377177061 |
Gnomad | rs377177061 |
Varsome | rs377177061 |
LitVar | rs377177061 |
Map | rs377177061 |
PheGenI | rs377177061 |
Biobank | rs377177061 |
1000 genomes | rs377177061 |
hgdp | rs377177061 |
ensembl | rs377177061 |
geneview | rs377177061 |
scholar | rs377177061 |
rs377177061 | |
pharmgkb | rs377177061 |
gwascentral | rs377177061 |
openSNP | rs377177061 |
23andMe | rs377177061 |
SNPshot | rs377177061 |
SNPdbe | rs377177061 |
MSV3d | rs377177061 |
GWAS Ctlg | rs377177061 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs377177061(T;T) |
Alt | rs377177061(T;T) |
Reference | Rs377177061(C;C) |
Significance | Pathogenic |
Disease | Meckel-Gruber syndrome |
Variation | info |
Gene | CC2D2A |
CLNDBN | Meckel-Gruber syndrome |
Reversed | 0 |
HGVS | NC_000004.11:g.15504502C>T |
CLNSRC | ClinVar |
CLNACC | RCV000114178.1, |